p53 Review Article

You have free access to this content

Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides†

  1. Thierry Soussi1,*,
  2. Christophe Béroud2

Article first published online: 24 FEB 2003

DOI: 10.1002/humu.10189

Issue

Human Mutation

Human Mutation

Special Issue: Focus on p53 and Cancer

Volume 21, Issue 3, pages 192–200, March 2003

Additional Information

How to Cite

Soussi, T. and Béroud, C. (2003), Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides. Hum. Mutat., 21: 192–200. doi: 10.1002/humu.10189

Author Information

  1. 1

    Institut Curie and Université P. & M. Curie, EA3493, Laboratoire de Génotoxicologie des Tumeurs, Paris, France

  2. 2

    Laboratoire de Génétique Moléculaire, CHU de Montpellier, Institut Universitaire de Recherche Clinique, Montpellier, France

*Institut Curie and Université P. & M. Curie, EA3493, Laboratoire de Génotoxicologie des Tumeurs, 26 rue d'Ulm, 75248 Paris cedex 05, France

  1. †

    For the p53 Special Issue

Publication History

  1. Issue published online: 24 FEB 2003
  2. Article first published online: 24 FEB 2003

Funded by

  • Fondation de France

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (204K)

REFERENCES

  • Benard J, Douc-Rasy S, Ahomadegbe JC. 2003. The TP53 family members and human cancers. Hum Mutat 21:182–191.
    Direct Link:
  • Béroud C, Soussi T. 2003. The UMD-p53 database: new mutations and analysis tools. Hum Mutat 21:176–181.
    Direct Link:
  • Blandino G, Levine AJ, Oren M. 1999. Mutant p53 gain of function: differential effects of different p53 mutants on resistance of cultured cells to chemotherapy. Oncogene 18:477–485.
  • Caron de Fromentel C, Soussi T. 1992. TP53 Tumor suppressor gene: a model for investigating human mutagenesis. Genes Chrom Cancer 4:1–15.
    Direct Link:
  • Claustres M, Horaitis O, Vanevski M, Cotton RG. 2002. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res 12:680–688.
  • Collins FS. 1995. Positional cloning moves from perditional to traditional. Nat Genet 9:347–350.
  • Cotton RG. 2002. Mutation detection 2001: novel technologies, developments and applications for analysis of the human genome. Hum Mutat 19:313–314.
    Direct Link:
  • Denissenko MF, Pao A, Tang MS, Pfeifer GP. 1996. Preferential formation of benzo[a]pyrene adducts at lung cancer mutational hotspots in P53. Science 274:430–432.
  • Denissenko MF, Chen JX, Tang MS, Pfeifer GP. 1997. Cytosine methylation determines hot spots of DNA damage in the human P53 gene. Proc Natl Acad Sci USA 94:3893–3898.
  • Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fekete C, Ponder BA, Munnich A. 1994. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367:378–380.
  • Forrester K, Lupold SE, Ott VL, Chay CH, Band V, Wang XW, Harris CC. 1995. Effects of p53 mutants on wild-type p53-mediated transactivation are cell type dependent. Oncogene 10:2103–2111.
  • Friedlander P, Haupt Y, Prives C, Oren M. 1996. A mutant p53 that discriminates between p53-responsive genes cannot induce apoptosis. Mol Cell Biol 16:4961–4971.
  • Gallou C, Joly D, Mejean A, Staroz F, Martin N, Tarlet G, Orfanelli MT, Bouvier R, Droz D, Chretien Y, Marechal JM, Richard S, Junien C, Beroud C. 1999. Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum Mutat 13:464–475.
    Direct Link:
  • Hainaut P, Hollstein M. 2000. p53 and human cancer: the first ten thousand mutations. Adv Cancer Res 77:81–137.
  • Hinds PW, Finlay CA, Quartin RS, Baker SJ, Fearon ER, Vogelstein B, Levine AJ. 1990. Mutant p53 DNA clones from human colon carcinomas cooperate with ras in transforming primary rat cells: a comparison of the [Hot Spot] mutant phenotypes. Cell Growth Differ 1:571–580.
  • Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Hoppener JW, van Amstel HK, Romeo G, Lips CJM, Buys CHCM. 1994. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375–376.
  • Holmila R, Fouquet C, Cadranel J, Zalcman G, Soussi T. 2003. Splice mutations in the p53 gene: case report and review of the literature. Hum Mutat 21:101–102.
    Direct Link:
  • Hussain SP, Harris CC. 1999. p53 mutation spectrum and load: the generation of hypotheses linking the exposure of endogenous or exogenous carcinogens to human cancer. Mutat Res Fundam Mol Mech Mutat 428:23–32.
  • Hussain SP, Hollstein MH, Harris CC. 2000. p53 tumor suppressor gene: at the crossroads of molecular carcinogenesis, molecular epidemiology, and human risk assessment. Ann N Y Acad Sci 919:79–85.
    Direct Link:
  • Ingram VM. 1956. Specific chemical difference between globins of normal and sickle-cell anemia hemoglobins. Nature 178:792–794.
  • Levine AJ. 1997. p53, the cellular gatekeeper for growth and division. Cell 88:323–331.
  • Michael D, Oren M. 2002. The p53 and Mdm2 families in cancer. Curr Opin Genet Dev 12:53–59.
  • Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BAJ. 1993. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458–460.
  • Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G. 1993. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:959–968.
  • Ory K, Legros Y, Auguin C, Soussi T. 1994. Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation. EMBO J 13:3496–3504.
  • Paalman MH, Cotton RG, Kazazian HH Jr. 2000. Variation, databases, and disease: new directions for human mutation. Hum Mutat 16:97–98.
    Direct Link:
  • Parant JM, Lozano G. 2003. Disrupting TP53 in mouse models of human cancers. Hum Mutat 21:321–326.
    Direct Link:
  • Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, Martucciello G. 1994. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377–378.
  • Rowan S, Ludwig RL, Haupt Y, Bates S, Lu X, Oren M, Vousden KH. 1996. Specific loss of apoptotic but not cell-cycle arrest function in a human tumor derived p53 mutant. EMBO J 15:827–838.
  • Soudon J, Caron de Fromentel C, Bernard O, Larsen CJ. 1991. Inactivation of the p53 gene expression by a splice donor site mutation in a human T-cell leukemia cell line. Leukemia 5:917–920.
  • Soussi T, Béroud C. 2001. Assessing TP53 status in human tumours to evaluate clinical outcome. Nat Rev Cancer 1:233–240.
  • Soussi T. 2003. Focus on the p53 gene and cancer: advances in TP53 mutation research. Hum Mutat 21:173–175.
    Direct Link:
  • Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, Watson P, Lynch P, Laurant-Puig P, Burt R, Hughes JP, Thomas G, Leppert M, White R. 1993. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75:951–957.
  • Sun Y, Cheung HS. 2002. p53, proto-oncogene and rheumatoid arthritis. Semin Arthritis Rheum 31:299–310.
  • Tornaletti S, Pfeifer GP. 1995. Complete and tissue-independent methylation of CpG sites in the p53 gene: implications for mutations in human cancers. Oncogene 10:1493–1499.
  • Varley JM, Attwooll C, White G, McGown G, Thorncroft M, Kelsey AM, Gereaves M, Boyle J, Birch JM. 1999. Characterization of germline TP53 splicing mutations and their genetic and functional analysis. Oncogene 20:2647–2654.
  • Vogelstein B, Lane D, Levine AJ. 2000. Surfing the p53 network. Nature 408:307–310.
  • Vousden KH. 2002. Activation of the p53 tumor suppressor protein. Biochim Biophys Acta 1602:47–59.
  • Wallace-Brodeur RR, Lowe SW. 1999. Clinical implications of p53 mutations. Cell Mol Life Sci 55:64–75.
  • Xue F, Yu H, Maurer LH, Memoli VA, Nutile-McMenemy N, Schuster MK, Bowden DW, Mao J, Noll WW. 1994. Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum Mol Genet 3:635–638.
  • Yamanishi Y, Boyle DL, Rosengren S, Green DR, Zvaifler NJ, Firestein GS. 2002. Regional analysis of p53 mutations in rheumatoid arthritis synovium. Proc Natl Acad Sci USA. 99:10025–10030
  • You YH, Li C, Pfeifer GP. 1999. Involvement of 5-methylcytosine in sunlight-induced mutagenesis. J Mol Biol 293:493–503.
Get PDF (204K)